{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580112126",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 206,
          "referenceAllele": "W",
          "start": 205
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008860",
      "geneNCBI_id": 5191,
      "geneSymbol": "PEX7",
      "hgvs": [
        "NP_000279.1:p.Trp206Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA365763158",
          "hgvs": "NM_000288.4:c.618G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA365763160",
          "hgvs": "NM_000288.4:c.618G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146834"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1993778[alleleid]",
        "alleleId": 1993778,
        "preferredName": "NM_000288.4(PEX7):c.618G>T (p.Trp206Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1938348",
        "RCV": [
          "RCV002662591"
        ],
        "variationId": 1938348
      }
    ]
  },
  "type": "amino-acid"
}